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Disease: Thalassemia Thalassemia
Category: Blood diseases & tumors

Disease Definition:

The condition where the levels of blood cells and hemoglobin are less than normal in the blood is called thalassemia (Mediterranean anemia) and it is an inherited blood disorder. Fewer red blood cells and hemoglobin may lead to fatigue due the fact that they are the elements carrying oxygen in the body. Severe cases of thalassemia need regular blood transfusions along with healthy nutrition to keep up the body energy level, whereas mild cases may not need treatment.

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Symptoms, Causes


Symptoms of thalassemia are summarized as follows:


  • Shortness of breath
  • Protruding abdomen
  • Dark urine
  • Weakness
  • Fatigue
  • Facial bone deformities
  • Pale appearance
  • Jaundice, which is the yellowing of the skin and whites of the eyes
  • Irritability
  • Slow growth


Symptoms may vary according to the type and severity of thalassemia. Symptoms are detected in a period ranging from birth to the following couple of years. It is possible not to experience any symptoms of thalassemia when only one of the hemoglobin genes is affected. Parents should consult a physician when any of the previously mentioned symptoms is noticed in their child.


Thalassemia is a condition resulting from genetic defects, when one or more defected hemoglobin genes are inherited from the parents. Red blood cells contain a red, rich in iron protein called hemoglobin, which is in charge of carrying oxygen from the lungs to the various body tissues, and collecting carbon dioxide from them back to the lungs. Red blood cells are produced in the bone marrow, which is a red spongy material found in the cavity of most large bones. Thalassemia causes a disruption in the ratio of hemoglobin production and destruction of the red blood cells, thus causing anemia, where body tissues are deprived from the necessary oxygen, weakening the patient. Depending on the major types of protein chains that produce normal hemoglobin, there are two types of thalassemia, alpha and beta.



There are four genes responsible for making an alpha hemoglobin chain, where two genes come from each parent. Alpha-thalassemia will develop if one or more of the alpha hemoglobin genes are defected. The severity of alpha-thalassemia is proportional to the number of the defected genes.


One gene:

People with one defected gene do not experience the symptoms of thalassemia, but they are considered carriers and may pass the disease to their children.


Two genes:

This case is called alpha-thalassemia minor or alpha-thalassemia trait, and the patient experiences mild symptoms of thalassemia.


Three genes:

This case is called hemoglobin H disease, and the patient experiences symptoms of thalassemia on moderate to severe levels.


Four genes:

This case is called alpha-thalassemia major or hydrops fetalis, where the baby dies while still a fetus or shortly after birth.



A couple of genes are responsible of generating the beta hemoglobin chain, where each of them comes from each parent. Beta-thalassemia will develop if either or both of the genes are defected.


One gene:

This condition is called beta-thalassemia minor or beta-thalassemia trait, where the patient experiences mild symptoms.


Two genes:

This condition is called beta-thalassemia major or Cooley's anemia, where the patient experiences mild to severe symptoms, which are developed within the first couple of years of life after a healthy birth.



It is probable for people with thalassemia to experience the following complications:


Iron overload:

The disease itself or frequent blood transfusions may cause an increase of iron levels in the body, which damages the heart, liver and endocrine system, affecting the regularity of the processes of the body due to the disruption of the function of the glands found in the endocrine system.



Blood transfusions may lead to blood-borne related infections, such as hepatitis, which is a viral infection causing liver damage.


Severe cases of thalassemia can lead to the following complications:


Bone deformities:

An expansion of the bone marrow may occur causing the bones to become wide, and so altering the normal structure of the bones especially facial and skull bones. This expansion may also cause increased risk of bone fracture, since bones grow thinner and more brittle, especially fractures of the spinal column which may result in spinal cord compression.


Enlarged spleen (splenomegaly):

Unwanted elements like old or damaged blood cells are filtered away by the spleen. It also takes part in fighting infection. As a large number of blood cells are damaged by thalassemia, the workload of the spleen is significantly increased, which leads to its enlargement. This can deteriorate anemia by shortening the life of transfused red blood cells and may raise the need of surgical removal of the spleen.


Slow growth rates:

This is caused by anemia, where in severe cases of thalassemia children rarely reach to the height of normal adults, and may experience delayed puberty due to endocrine problems.


Heart problems:

Severe cases of thalassemia may be associated with congestive heart failure and abnormal heart rhythms (arrhythmias).


According to the type and severity, treatment of thalassemia varies:


Treatments for mild thalassemia:

When the symptoms are mild, the patient needs no or little treatment, like blood transfusion on occasions such as surgery, infection or childbirth.


Treatments for moderate to severe thalassemia:

This case frequently calls for blood transfusions (annually eight or more), which gives way to increased iron levels in the body, damaging the heart and the liver along with other organs, which can be avoided by taking iron chelators, administered in the form of pills or subcutaneously to help the body get rid of the extra iron.


In extreme cases, stem cell transplant or bone marrow transplant is carried out to treat thalassemia. This procedure requires a well-matched sibling donor; it is also highly risky and even fatal.


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